Residual CD95-pathway function in children with autoimmune lymphoproliferative syndrome is independent from clinical state and genotype of CD95 mutation

Pediatric Research

Volumn 65, Issue 2, 2009, Pages 163-168

  Fuchs, Hans ^a   Posovszky, Carsten ^a   Lahr, Georgia ^a   Van Der Werff Ten Bosch, Jutte ^b   Boehler, Thomas ^c   Debatin, Klaus Michael ^a,d  

^a UNIVERSITY OF ULM   (Germany)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d UNIVERSITY HOSPITAL ULM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CASPASE 10; CASPASE 8; DEATH DOMAIN RECEPTOR SIGNALING ADAPTOR PROTEIN; FAS ANTIGEN;

APOPTOSIS; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME ACTIVITY; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; LYMPHOBLASTOID CELL; LYMPHOCYTE; LYMPHOPROLIFERATIVE DISEASE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN FUNCTION; SIGNAL TRANSDUCTION; VIRUS CELL TRANSFORMATION;

EID: 60449095842     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1203/PDR.0b013e318191f7e4     Document Type: Article

References (32)

1. Siegel RM, Frederiksen JK, Zacharias DA, Chan FK, Johnson M, Lynch D, Tsien RY, Lenardo MJ 2000 Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations. Science 288:2354-2357
2. Kischkel FC, Hellbardt S, Behrmann I, Germer M, Pawlita M, Krammer PH, Peter ME 1995 Cytotoxicity-dependent APO-1 (Fas/CD95)-associated proteins form a death-inducing signaling complex (DISC) with the receptor. EMBO J 14:5579-5588
3. Golks A, Brenner D, Schmilz I, Watzl C, Krueger A, Krammer PH, Lavrik IN 2006 The role of CAP3 in CD95 signaling: new insights into the mechanism of pro-caspase-8 activation. Cell Death Differ 13:489-498
4. Rieux-Laucat F, Le Deist F, Hivroz C, Roberts IA, Debatin KM, Fischer A, de Villartay JP 1995 Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science 268:1347-1349
5. Sneller MC, Wang J, Dale JK, Strober W, Middelton LA, Choi Y, Fleisher TA, Lim MS, Jaffe ES, Puck JM, Lenardo MJ, Straus SE 1997 Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. Blood 89:1341-1348
6. Straus SE, Jaffe ES, Puck JM, Dale JK, Elkon KB, Rosen-Wolff A, Peters AM, Sneller MC, Hallahan CW, Wang J, Fischer RE, Jackson CM, Lin AY, Baumler C, Siegert E, Marx A, Vaishnaw AK, Grodzicky T, Fleisher TA, Lenardo MJ 2001 The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. Blood 98:194-200
7. Fisher GH, Rosenberg FJ, Straus SE, Dale JK, Middleton LA, Lin AY, Strober W, Lenardo MJ, Puck JM 1995 Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell 81:935-946
8. Wang J, Zheng L, Lobito A, Chan FK, Dale J, Sneller M, Yao X, Puck JM, Straus SE, Lenardo MJ 1999 Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. Cell 98:47-58
9. Bi LL, Pan G, Atkinson TP, Zheng L, Dale JK, Makris C, Reddy V, McDonald JM, Siegel RM, Puck JM, Lenardo MJ, Straus SE 2007 Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib. BMC Med Genet 8:41
10. Chun HJ, Zheng L, Ahmad M, Wang J, Speirs CK, Siegel RM, Dale JK, Puck J, Davis J, Hall CG, Skoda-Smith S, Atkinson TP, Straus SE, Lenardo MJ 2002 Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. Nature 419:395-399
11. Dianzani U, Bragardo M, DiFranco D, Alliaudi C, Scagni P, Buonfiglio D, Redoglia V, Bonissoni S, Correra A, Dianzani I, Ramenghi U 1997 Deficiency of the Fas apoptosis pathway without Fas gene mutations in pediatric patients with autoimmunity/lymphoproliferation. Blood 89:2871-2879
12. Holzelova E, Vonarbourg C, Stolzenberg MC, Arkwright PD, Selz F, Prieur AM, Blanche S, Bartunkova J, Vilmer E, Fischer A, Le Deist F, Rieux-Laucat F 2004 Autoimmune lymphoproliferative syndrome with somatic Fas mutations. N Engl J Med 351:1409-1418
13. Beltinger C, Bohler T, Schrappe M, Ludwig WD, Debatin KM 1998 [The role of CD95 (APO-1/Fas) mutations in lymphoproliferative and malignant lymphatic diseases]. Klin Padiatr 210:153-158
14. Vaishnaw AK, Orlinick JR, Chu JL, Krammer PH, Chao MV, Elkon KB 1999 The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations. J Clin Invest 103:355-363
15. Martin DA, Zheng L, Siegel RM, Huang B, Fisher GH, Wang J, Jackson CE, Puck JM, Dale J, Straus SE, Peter ME, Krammer PH, Fesik S, Lenardo MJ 1999 Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia. Proc Natl Acad Sci USA 96:4552-4557
16. Jackson CE, Fischer RE, Hsu AP, Anderson SM, Choi Y, Wang J, Dale JK, Fleisher TA, Middelton LA, Sneller MC, Lenardo MJ, Straus SE, Puck JM 1999 Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. Am J Hum Genet 64:1002-1014
17. Roesler J, Izquierdo JM, Ryser M, Rosen-Wolff A, Gahr M, Valcarcel J, Lenardo MJ, Zheng L 2005 Haploinsufficiency, rather than the effect of an excessive production of soluble CD95 (CD95{Delta}TM), is the basis for ALPS Ia in a family with duplicated 3′ splice site AG in CD95 intron 5 on one allele. Blood 106:1652-1659
18. Bettinardi A, Brugnoni D, Quiros-Roldan E, Malagoli A, La Gratta S, Correra A, Notarangelo LD 1997 Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. Blood 89:902-909
19. Drappa J, Vaishnaw AK, Sullivan KE, Chu JL, Elkon KB 1996 Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity. N Engl J Med 335:1643-1649
20. van der Werff ten Bosch J, Schotte P, Ferster A, Azzi N, Boehler T, Laurey G, Arola M, Demanet C, Beyaert R, Thielemans K, Otten J 2002 Reversion of autoimmune lymphoproliferative syndrome with an antimalarial drug: preliminary results of a clinical cohort study and molecular observations. Br J Haematol 117:176-188
21. Siegel RM, Muppidi JR, Sarker M, Lobito A, Jen M, Martin D, Straus SE, Lenardo MJ 2004 SPOTS: signaling protein oligomeric transduction structures are early mediators of death receptor-induced apoptosis at the plasma membrane. J Cell Biol 167:735-744
22. Rieux-Laucat F, Blachere S, Danielan S, de Villartay JP, Oleastro M, Solary E, Bader-Meunier B, Arkwright P, Pondare C, Bernaudin F, Chapel H, Nielsen S, Berrah M, Fischer A, Le Deist F 1999 Lymphoproliferative syndrome with autoimmunity: a possible genetic basis for dominant expression of the clinical manifestations. Blood 94:2575-2582
23. van der Burg M, de Groot R, Comans-Bitter WM, den Hollander JC, Hooijkaas H, Neijens HJ, Berger RM, Oranje AP, Langerak AW, van Dongen JJ 2000 Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease? Pediatr Res 47:336-343
24. Kasahara Y, Wada T, Niida Y, Yachie A, Seki H, Ishida Y, Sakai T, Koizumi F, Koizumi S, Miyawaki T, Taniguchi N 1998 Novel Fas (CD95/APO-1) mutations in infants with a lymphoproliferative disorder. Int Immunol 10:195-202
25. Le Deist F, Emile JF, Rieux-Laucat F, Benkerrou M, Roberts I, Brousse N, Fischer A 1996 Clinical, immunological, and pathological consequences of Fas-deficient conditions. Lancet 348:719-723
26. SM X, Xie C, Kreska D, Richardson JA, Mohan C 2002 Genetic dissection of SLE: SLE1 and FAS impact alternate pathways leading to lymphoproliferative autoimmunity. J Exp Med 196:281-292
27. Do Y, Rafi-Janajreh AQ, McKallip RJ, Nagarkatti PS, Nagarkatti M 2003 Combined deficiency in CD44 and Fas leads to exacerbation of lymphoproliferative and autoimmune disease. Int Immunol 15:1327-1340
28. Vacek MM, Schaffer AA, Davis J, Fischer RE, Dale JK, Adams S, Straus SE, Puck JM 2006 HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia). Clin Immunol 118:59-65
29. Clementi R, Chiocchetti A, Cappellano G, Cerutti E, Ferretti M, Orilieri E, Dianzani I, Ferrarini M, Bregni M, Danesino C, Bozzi V, Putti MC, Cerutti F, Cometa A, Locatelli F, Maccario R, Ramenghi U, Dianzani U 2006 Variations of the perform gene in patients with autoimmunity/lymphoproliferation and defective Fas function. Blood 108:3079-3084
30. Ogata Y, Kimura M, Shimada K, Wakabayashi T, Onoda H, Katagiri T, Matsuzawa A 1993 Distinctive expression of lprcg in the heterozygous state on different genetic backgrounds. Cell Immunol 148:91-102
31. Holler N, Zaru R, Micheau O, Thome M, Attinger A, Valitutti S, Bodmer JL, Schneider P, Seed B, Tschopp J 2000 Fas triggers an alternative, caspase-8-independent cell death pathway using the kinase RIP as effector molecule. Nat Immunol 1:489-495
32. Peter ME, Krammer PH 2003 The CD95(APO-1/Fas) DISC and beyond. Cell Death Differ 10:26-35